Human homology and candidate genes for the Dominant megacolon locus, a mouse model of hirschsprung disease

Genomics

Volumn 39, Issue 1, 1997, Pages 86-89

  Pingault, Véronique ^a   Puliti, Aldamaria ^a,b   Préhu, Marie Odette ^a   Samadi, Abbas ^a,c   Bondurand, Nadège ^a   Goossens, Michel ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b G GASLINI INSTITUTE   (Italy)

^c KASHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; HIRSCHSPRUNG DISEASE; MEGACOLON; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0031017089     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4476     Document Type: Article

References (23)

1. 1. Amiel, J., Attié, T., Jan, D., Pelet, A., Edery, P., Bidaud, C., Lacombe, D., Tam, P., Simeoni, J., Flori, E., Nihoul-Fékété, C., Munnich, A., and Lyonnet, S. (1996). Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease. Hum. Mol. Genet. 5: 355-357.
2. 2. Angrist, M., Bolk, S., Thiel, B., Puffenberger, E. G., Hofstra, R. M. W., Buys, C. H. C. M., Cass, D. T., and Chakravarti, A. (1995). Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Mol. Genet. 4: 821-830.
3. 3. Attié, T., Pelet, A., Edery, P., Eng, C., Mulligan, L. M., Amiel, J., Boutrand, L., Beldjord, C., Nihoul-Fékété, C., Munnich, A., Ponder, B., and Lyonnet, S. (1995). Diversity of RET proto-oncogene mutations in familial and sporadic Hischsprung disease. Hum. Mol. Genet. 4: 1381-1386.
4. 4. Attié, T., Till, M., Pelet, A., Amiel, J., Edery, P., Boutrand, L., Munnich, A., and Lyonnet, S. (1995). Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum. Mol. Genet. 4: 2407-2409.
5. 5. Auricchio, A., Casari, G., Staiano, A., and Ballabio, A. (1996). Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum. Mol. Genet. 5: 351-354.
6. 6. Badner, J. A., Sieber, W. K., Garver, K. L., and Chakravarti, A. (1990). A genetic study of Hirschsprung disease. Am. J. Hum. Genet. 46: 568-580.
7. 7. Breen, M., Deakin, L., MacDonald, B., Miller, S., Sibson, R., Tartelin, E., Avner, P., Bourgade, F., Guénet, J. L., Montagutelli, X., Poirier, C., Simon, D., Tailor, D., Bishop, M., Kelly, M., Rysavy, F., Rastan, S., Norris, D., Shepherd, D., Abbott, C., Pilz, A., Hodge, S., Jackson, I., Boyd, Y., Blair, H., Maslen, G., Todd, J. A., Reed, P. W., Stoye, J., Ashworth, A., McCarthy, L., Cox, R., Schalkwyk, L., Lehrach, H., Klose, J., Gangadharan, U., and Brown, S. (1994). Towards high resolution maps of the mouse and human genomes-a facility for ordering markers to 0.1 cM resolution. Hum. Mol. Genet. 3: 621-627.
8. 8. Church, G. M., and Gilbert, W. (1984). Genomic sequencing. Proc. Natl. Acad. Sci. USA 81: 1991-1995.
9. 9. Collins, J. E., Cole, C. G., Smink, L. J., Garret, C. L., Leversha, M. A., Soderlund, C. A., Maslen, G. L., Everett, L. A., Rice, K. M., Coffey, A. J., Gregory, S. G., Gwilliam, R., Dunham, A., Davies, A. F., Hassock, S., Todd, C. M., Lehrach, H., Hulsebos, T. J. M., Weissenbach, J., Morrow, B., Kucherlapati, R. S., Wadey, R., Scambler, P. J., Kim, U. J., Simon, M. I., Peyrard, M., Xie, Y.-G., Carter, N. P., Durbin, R., Dumanski, J. P., Bentley, D. R., and Dunham, I. (1995). A high-density YAC contig map of human chromosome 22. Nature 377(Suppl.): 367-379.
10. 10. Drouet, B., and Simon-Chazottes, D. (1993). The microsatellite found in the DNA sequence with the code name MMMYOGG1 (GenBank) does not correspond to the myogenin gene (Myog) but to myoglobin (Mb) and maps to mouse chromosome 15. Mamm. Genome 4: 348.
11. 11. Edery, P., Attié, T., Amiel, J., Pelet, A., Eng, C., Hofstra, R. M. W., Martelli, H., Bidaud, C., Munnich, A., and Lyonnet, S. (1996). Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genet. 12: 442-444.
12. 12. Hofstra, R. M. W., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E.-J., Stulp, R. P., van Ravenswaaij-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C., and Buys, C. H. C. M. (1996). A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genet. 12: 445-447.
13. 13. Ko, M. S., Wang, X., Horton, J. H., Hagen, M. D., Takahashi, N., Maezaki, Y., and Nadeau, J. H. (1994). Genetic mapping of 40 cDNA clones on the mouse genome by PCR. Mamm. Genome 5: 349-355.
14. 14. Kusafuka, T., Wang, Y., and Puri, P. (1996). Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Hum. Mol. Genet. 5: 347-349.
15. 15. Lane, P. W., and Liu, H. M. (1984). Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J. Hered. 75: 435-439.
16. 16. Levéen, P., Pekny, M., Gebre-Medhin, S., Swolin, B., Larsson, E., and Betsholtz, C. (1994). Mice deficient for PDGFB show renal, cardiovascular, and hematological abnormalities. Genes Dev. 8: 1875-1887.
17. 17. Lyon, M. F., and Kirby, M. C. (1995). Mouse chromosome atlas. Mouse Genome 93: 23-66.
18. 18. Mock, B. A., Eppig, J. T., Neumann, P. E., and Huppi, K. E. (1994). Mouse Chromosome 15. Mamm. Genome 5: s217-s228.
19. 19. Montagutelli, X. (1990). GENE-LINK - A program in PASCAL for backcross genetic linkage analysis. J. Hered. 81: 490-491.
20. 20. Poirier, F., and Robertson, E. J. (1993). Normal development of mice carrying a null mutation in the gene encoding the L14 S-type lectin. Development 119: 1229-1236.
21. 21. Puliti, A., Prehu, M. O., Simon-Chazottes, D., Ferkdadji, L., Peuchmaur, M., Goossens, M., and Guénet, J. L. (1995). A high resolution genetic maps of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus. Mamm. Genome 6: 763-768.
22. 16α) in mice. Organization, differential regulation, and chromosome localization. J. Biol. Chem. 264: 2920-2927.
23. 23. Yin, L., Barone, V., Seri, M., Bolino, A., Bocciardi, R., Ceccherini, I., Pasini, B., Tocco, T., Lerone, M., Cywes, S., Moore, S., Vanderwinden, J. M., Abramowinden, M. J., Kristofferson, U., Larsson, L. T., Hamel, B. C. J., Silengo, M., Martucciello, G., and Romeo, G. (1994). Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur. J. Hum. Genet. 2: 272-280.